家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000059.4(BRCA2):c.1029del (p.Lys343fs)	BRCA2	Pathogenic	13	32906640	32906640	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1257&base_change=del A,ClinGen:CA010596
Duplication	NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)	BRCA2	Pathogenic	13	32906668	32906669	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1282&base_change=ins T,ClinGen:CA010673
Deletion	NM_000059.4(BRCA2):c.1156del (p.Glu386fs)	BRCA2	Pathogenic	13	32906770	32906770	AG	A	reviewed by expert panel	ClinGen:CA010998
Insertion	NM_000059.3(BRCA2):c.1189_1190ins4	BRCA2	Pathogenic	13	32906804	32906805	na	na	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA2):1417&base_change=ins 4
Deletion	NM_000059.4(BRCA2):c.1205del (p.Gly402fs)	BRCA2	Pathogenic	13	32906819	32906819	AG	A	reviewed by expert panel	ClinGen:CA011169
Deletion	NM_000059.4(BRCA2):c.1238del (p.Leu413fs)	BRCA2	Pathogenic	13	32906853	32906853	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1466&base_change=del T,ClinGen:CA011280
single nucleotide variant	NM_000059.4(BRCA2):c.1253C>A (p.Ser418Ter)	BRCA2	Pathogenic	13	32906868	32906868	C	A	reviewed by expert panel	ClinGen:CA011334
Deletion	NM_000059.4(BRCA2):c.1257del (p.Cys419fs)	BRCA2	Pathogenic	13	32906872	32906872	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1485&base_change=del T,ClinGen:CA011341
Deletion	NM_000059.4(BRCA2):c.1265del (p.Asn422fs)	BRCA2	Pathogenic	13	32906877	32906877	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1493&base_change=del A,ClinGen:CA011394
Duplication	NM_000059.4(BRCA2):c.1593dup (p.Glu532fs)	BRCA2	Pathogenic	13	32907202	32907203	T	TA	reviewed by expert panel	ClinGen:CA012525